Down syndrome: From understanding the neurobiology to therapy

Journal of Neuroscience

Volumn 30, Issue 45, 2010, Pages 14943-14945

  Gardiner, Katheleen ^a   Herault, Yann ^b   Lott, Ira T ^c   Antonarakis, Stylianos E ^d   Reeves, Roger H ^e   Dierssen, Mara ^f  

^a Children's Hospital Colorado   (United States)

^b INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f CENTRE FOR GENOMIC REGULATION CRG   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BEHAVIOR; BRAIN FUNCTION; CHROMOSOME 21; COGNITION; COGNITIVE DEFECT; CONFERENCE PAPER; COPY NUMBER VARIATION; DOWN SYNDROME; EVIDENCE BASED PRACTICE; GENE EXPRESSION; GENE SEQUENCE; GENOME ANALYSIS; HUMAN; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NEUROBIOLOGY; NONHUMAN; PRIORITY JOURNAL; TRISOMY 21;

ANIMALS; DISEASE MODELS, ANIMAL; DOWN SYNDROME; HUMANS; MENTAL RETARDATION;

EID: 78149486803     PISSN: 02706474     EISSN: 15292401     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.3728-10.2010     Document Type: Conference Paper

References (25)

1. Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S (2004) Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nat Rev Genet 5:725-738.
2. Belichenko NP, Belichenko PV, Kleschevnikov AM, Salehi A, Reeves RH, Mobley WC (2009) The "Down syndrome critical region" is sufficient in the mouse model to confer behavioral, neurophysiological, and synaptic phenotypes characteristic of Down syndrome. J Neurosci 29:5938-5948.
3. Besson V, Brault V, Duchon A, Togbe D, Bizot JC, Quesniaux VF, Ryffel B, Hérault Y (2007) Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses. Hum Mol Genet 16:2040-2052.
4. Cooper JD, Salehi A, Delcroix JD, Howe CL, Belichenko PV, Chua-Couzens J, Kilbridge JF, Carlson EJ, Epstein CJ, Mobley WC 2001 Failed retrograde transport of NGF in a mouse model of Down's syndrome: reversal of cholinergic neurodegenerative phenotypes following NGF infusion. Proc Natl Acad Sci U S A 98:10439-10444.
5. Dierssen M, Benavides-Piccione R, Martínez-Cué C, Estivill X, Fló rez J, Elston GN, DeFelipe J (2003) Alterations of neocortical pyramidal cell phenotype in the Ts65Dn mouse model of Down syndrome: effects of environmental enrichment. Cereb Cortex 13:758-764.
6. Dierssen M, Herault Y, Estivill X (2009) Aneuploidy: from a physiological mechanism of variance to Down syndrome. Physiol Rev 89:887-920.
7. Fernandez F, Morishita W, Zuniga E, Nguyen J, Blank M, Malenka RC, Garner CC (2007) Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome. Nat Neurosci 10:411-413. (Pubitemid 46494581)
8. Galante M, Jani H, Vanes L, Daniel H, Fisher EM, Tybulewicz VL, Bliss TV, Morice E (2009) Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome. Hum Mol Genet 18:1449-1463.
9. Hanson JE, Blank M, Valenzuela RA, Garner CC, Madison DV (2007) The functional nature of synaptic circuitry is altered in area CA3 of the hippocampus in a mouse model of Down's syndrome. J Physiol 579:53-67.
10. Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, Cohen MY, Doran E, Falik-Zaccai T, Lewin SO, Lott IT, et al. (2009) The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A 106:12031-12036.
11. Kurt MA, Davies DC, Kidd M, Dierssen M, Fló rez J (2000) Synaptic deficit in the temporal cortex of partial trisomy 16 (Ts65Dn) mice. Brain Res 858:191-197.
12. Kurt MA, Kafa MI, Dierssen M, Davies DC (2004) Deficits of neuronal density in CA1 and synaptic density in the dentate gyrus, CA3 and CA1, in a mouse model of Down syndrome. Brain Res 1022:101-109.
13. Li Z, Yu T, Morishima M, Pao A, LaDuca J, Conroy J, Nowak N, Matsui S, Shiraishi I, Yu YE (2007) Duplication of the entire 22.9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities. Hum Mol Genet 16:1359-1366.
14. Lott IT, Dierssen M (2010) Cognitive deficits and associated neurological complications in individuals with Down's syndrome. Lancet Neurol 9:623-633.
15. Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, et al. (2009) Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet 17:454-466.
16. Martínez-Cué C, Baamonde C, Lumbreras M, Paz J, Davisson MT, Schmidt C, Dierssen M, Fló rez J (2002) Differential effects of environmental enrichment on behavior and learning of male and female Ts65Dn mice, a model for Down syndrome. Behav Brain Res 134:185-200.
17. Morice E, Andreae LC, Cooke SF, Vanes L, Fisher EM, Tybulewicz VL, Bliss TV (2008) Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tc1 mouse model of Down syndrome. Learn Mem 15:492-500.
18. O'Doherty A, Ruf S, Mulligan C, Hildreth V, Errington ML, Cooke S, Sesay A, Modino S, Vanes L, Hernandez D, Linehan JM, Sharpe PT, Brandner S, Bliss TV, Henderson DJ, Nizetic D, Tybulewicz VL, Fisher EM (2005) An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 309:2033-2037.
19. Olson LE, Richtsmeier JT, Leszl J, Reeves RH (2004) A chromosome 21 critical region does not cause specific Down syndrome phenotypes. Science 306:687-690.
20. Pereira PL, Magnol L, Sahún I, Brault V, Duchon A, Prandini P, Gruart A, Bizot JC, Chadefaux-Vekemans B, Deutsch S, Trovero F, Delgado-García JM, Antonarakis SE, Dierssen M, Herault Y (2009) A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. Hum Mol Genet 18:4756-4769.
21. Prandini P, Deutsch S, Lyle R, Gagnebin M, Delucinge Vivier C, Delorenzi M, Gehrig C, Descombes P, Sherman S, Dagna Bricarelli F, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE (2007) Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet 81:252-263.
22. Reeves RH, Irving NG, Moran TH, Wohn A, Kitt C, Sisodia SS, Schmidt C, Bronson RT, Davisson MT (1995) A mouse model for Down syndrome exhibits learning and behaviour deficits. Nat Genet 11:177-184.
23. Roper RJ, Baxter LL, Saran NG, Klinedinst DK, Beachy PA, Reeves RH (2006) Defective cerebellar response to mitogenic Hedgehog signaling in Down [corrected] syndrome mice. Proc Natl Acad Sci U S A 103:1452-1456.
24. Yu T, Clapcote SJ, Li Z, Liu C, Pao A, Bechard AR, Carattini-Rivera S, Matsui S, Roder JC, Baldini A, Mobley WC, Bradley A, Yu YE (2010a) Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice. Mamm Genome 21:258-267.
25. Yu T, Li Z, Jia Z, Clapcote SJ, Liu C, Li S, Asrar S, Pao A, Chen R, Fan N, Carattini-Rivera S, Bechard AR, Spring S, Henkelman RM, Stoica G, Matsui S, Nowak NJ, Roder JC, Chen C, Bradley A, et al. (2010b) A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions. Hum Mol Genet 19:2780-2791.